Hypomorphic RAG1 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A condition of decreased or absent presence or activity of V(D)J recombination-activating protein 1. Deficiency of this protein is associated with Omenn syndrome, severe combined immunodeficiency, b cell-negative, combined cellular and humoral immune defects with granulomas, and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity.

**Synonyms:** - Hypomorphic Rag1 deficiency